[ { "phenotype_id": "PH156", "phenotype_version_id": 312, "name": "Down's syndrome", "definition": "At the specified date, a patient is defined as having had Down's syndrome IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:\n\n\nPrimary care\n\n\n1. Down's syndrome diagnosis or history of diagnosis during a consultation \n\nOR\nSecondary care (ICD10)\n\n\n1. ALL diagnoses of Down's syndrome or history of diagnosis during a hospitalization\n\n\n\n\n\n\n\n\n\n\n\n\n", "implementation": "", "publications": [ { "doi": "10.1016/S2589-7500(19)30012-3", "details": "Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3" } ], "validation": "", "citation_requirements": "", "created": "2021-10-06T16:05:34.742557Z", "author": "Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A", "collections": [ { "name": "CALIBER", "value": 21 }, { "name": "Phenotype Library", "value": 18 } ], "tags": null, "organisation": null, "world_access": 1, "updated": "2021-10-06T16:05:34.742586Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "ontology": null, "phenoflowid": "https://kclhi.org/phenoflow/workflows/github.com/phenoflow/Downs-syndrome---ad19a510-177b-11ef-9de4-4d4ea830ad16/blob/read-potential-cases-fhir/Downs-syndrome.cwl", "data_sources": [ { "name": "CPRD GOLD", "value": 5, "uid": "a29feafa-7bdd-44e9-b977-c9d26425e67f", "url": "https://healthdatagateway.org/en/dataset/694", "datasource_id": 694 }, { "name": "HES Admitted Patient Care data for CPRD GOLD", "value": 9, "uid": "4bcf64a6-f404-4ef4-ae6e-172512ab5f43", "url": "https://healthdatagateway.org/en/dataset/674", "datasource_id": 674 } ], "coding_system": [ { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v2", "value": 5 }, { "name": "Med codes", "value": 8 } ], "event_date_range": "01/01/1999 - 01/07/2016", "concept_information": [ { "concept_id": 1131, "concept_version_id": 3401, "concept_name": "Down's syndrome - Primary care", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH156", "phenotype_version_id": 312, "phenotype_name": "Down's syndrome", "code_attribute_header": [ "Disease", "Medcode", "Category" ], "codes": [ { "code": "PJ0..00", "description": "Down's syndrome - trisomy 21", "attributes": { "Disease": "Down's syndrome", "Medcode": "1543.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ00.00", "description": "Trisomy 21, meiotic nondisjunction", "attributes": { "Disease": "Down's syndrome", "Medcode": "42701.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ01.00", "description": "Trisomy 21, mosaicism", "attributes": { "Disease": "Down's syndrome", "Medcode": "32010.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ0..11", "description": "Mongolism", "attributes": { "Disease": "Down's syndrome", "Medcode": "23489.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ01.11", "description": "Trisomy 21, mitotic nondisjunction", "attributes": { "Disease": "Down's syndrome", "Medcode": "107919.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ0..12", "description": "Trisomy 21", "attributes": { "Disease": "Down's syndrome", "Medcode": "18415.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ02.00", "description": "Trisomy 21, translocation", "attributes": { "Disease": "Down's syndrome", "Medcode": "61499.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ02.11", "description": "Partial trisomy 21 in Down's syndrome", "attributes": { "Disease": "Down's syndrome", "Medcode": "101309.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ0z.00", "description": "Down's syndrome NOS", "attributes": { "Disease": "Down's syndrome", "Medcode": "10759.0", "Category": "Diagnosis of Down's syndrome" } }, { "code": "PJ0z.11", "description": "Trisomy 21 NOS", "attributes": { "Disease": "Down's syndrome", "Medcode": "61627.0", "Category": "Diagnosis of Down's syndrome" } } ] }, { "concept_id": 1132, "concept_version_id": 3403, "concept_name": "Down's syndrome - Primary care", "coding_system": { "id": 8, "name": "Med codes", "description": "Med codes" }, "phenotype_id": "PH156", "phenotype_version_id": 312, "phenotype_name": "Down's syndrome", "code_attribute_header": [ "Disease", "ReadcodeDescr", "Readcode" ], "codes": [ { "code": "101309.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Partial trisomy 21 in Down's syndrome", "Readcode": "PJ02.11" } }, { "code": "10759.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Down's syndrome NOS", "Readcode": "PJ0z.00" } }, { "code": "107919.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21, mitotic nondisjunction", "Readcode": "PJ01.11" } }, { "code": "1543.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Down's syndrome - trisomy 21", "Readcode": "PJ0..00" } }, { "code": "18415.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21", "Readcode": "PJ0..12" } }, { "code": "23489.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Mongolism", "Readcode": "PJ0..11" } }, { "code": "32010.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21, mosaicism", "Readcode": "PJ01.00" } }, { "code": "42701.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21, meiotic nondisjunction", "Readcode": "PJ00.00" } }, { "code": "61499.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21, translocation", "Readcode": "PJ02.00" } }, { "code": "61627.0", "description": "Diagnosis of Down's syndrome", "attributes": { "Disease": "Down's syndrome", "ReadcodeDescr": "Trisomy 21 NOS", "Readcode": "PJ0z.11" } } ] }, { "concept_id": 1133, "concept_version_id": 3405, "concept_name": "Down's syndrome - Secondary care - Diagnoses", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH156", "phenotype_version_id": 312, "phenotype_name": "Down's syndrome", "code_attribute_header": [ "Disease", "Category" ], "codes": [ { "code": "Q90", "description": "Down's syndrome", "attributes": { "Disease": "Down's syndrome", "Category": "Diagnosis of Down's syndrome" } } ] } ], "status": 2, "doi": "https://doi.org/10.48533/sgef-x352", "is_deleted": null, "publish_status": 2, "owner": "ieuan.scanlon", "template": { "id": 1, "name": "Clinical-Coded Phenotype", "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.", "version_id": 1 }, "versions": [ { "version_id": 312, "version_name": "Down's syndrome", "version_date": "2021-10-06T16:05:34.770078Z", "is_published": true, "is_latest": true } ] } ]